NDLI: Multiple café au lait spots in familial patients with MAP2K2 mutation.

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Multiple café au lait spots in familial patients with MAP2K2 mutation.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Takenouchi, Toshiki Shimizu, Atsushi Torii, Chiharu Kosaki, Rika Takahashi, Takao Saya, Hideyuki Kosaki, Kenjiro
Description	Country affiliation: Japan Author Affiliation: Takenouchi T ( Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.)
Abstract	Recent advances in genetic diagnostic technologies have made the classic disease nosology highly complicated. This situation is exemplified by rasopathies, among which neurofibromatosis type 1 and Noonan syndrome represent prototypic entities. The former condition is characterized by multiple café au lait spots and neurofibromas, while the latter is characterized by distinct facial features, webbed neck, congenital heart disease, and a short stature. On rare occasions, the features of both neurofibromatosis and Noonan syndrome co-exist within an individual; such patients are diagnosed as having neurofibromatosis-Noonan syndrome. Here, we report familial patients with multiple café au lait spots and Noonan syndrome-like facial features. A mutation analysis unexpectedly revealed a mutation in MAP2K2 in both the propositus and his mother. The propositus fulfilled the diagnostic criteria for neurofibromatosis type 1, but his mother did not. Their phenotype was not consistent with that of cardio-facio-cutaneous syndrome, which is classically known to be associated with MAP2K2 mutations. The mother of the propositus had cervical cancer at the age of 23 years, consistent with the oncogenic tendency associated with rasopathies. The phenotypic combination of multiple café au lait spots and Noonan syndrome-like facial features suggested a diagnosis of neurofibromatosis-Noonan syndrome. Whether this condition represents a discrete disease entity or a variable expression of neurofibromatosis type 1 has long been debated. The present observation suggests that some perturbation in the RAS/MAPK signaling cascade results in multiple café au lait spots, a key diagnostic phenotype of rasopathies, although the exact mechanism remains to be elucidated.
File Format	HTM / HTML
ISSN	15524825
Issue Number	2
Volume Number	164A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2014-02-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Cafe-au-lait Spots Genetics Family Map Kinase Kinase 2 Mutation Adult Amino Acid Sequence Diagnosis Child Child, Preschool Dna Mutational Analysis Female Humans Male Molecular Sequence Data Phenotype Skin Pathology Case Reports Journal Article Research Support, Non-u.s. Gov't Review
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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